• Gene id: 9704

Gene Summary

• Gene Symbol: DHX34   Gene   UCSC   Ensembl
• Aliases: DDX34, HRH1
• Gene name: DExH-box helicase 34
• Alternate names: probable ATP-dependent RNA helicase DHX34, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34, DEAH (Asp-Glu-Ala-His) box polypeptide 34, DEAH box protein 34, DEAH-box helicase 34, probable ATP-dependent helicase DHX34,
• Gene location: 19q13.32 (47349314: 47382703)     Exons: 21     NC_000019.10
• Gene summary(Entrez): DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and m
• OMIM: 608738

Protein Summary

• Protein general information: Q14147  
  • Name: Probable ATP dependent RNA helicase DHX34 (EC 3.6.4.13) (DEAH box protein 34)
  • Length: 1143  
  • Mass: 128120
• Sequence:

  MPPPRTREGRDRRDHHRAPSEEEALEKWDWNCPETRRLLEDAFFREEDYIRQGSEECQKFWTFFERLQRFQNLKT
  SRKEEKDPGQPKHSIPALADLPRTYDPRYRINLSVLGPATRGSQGLGRHLPAERVAEFRRALLHYLDFGQKQAFG
  RLAKLQRERAALPIAQYGNRILQTLKEHQVVVVAGDTGCGKSTQVPQYLLAAGFSHVACTQPRRIACISLAKRVG
  FESLSQYGSQVGYQIRFESTRSAATKIVFLTVGLLLRQIQREPSLPQYEVLIVDEVHERHLHNDFLLGVLQRLLP
  TRPDLKVILMSATINISLFSSYFSNAPVVQVPGRLFPITVVYQPQEAEPTTSKSEKLDPRPFLRVLESIDHKYPP
  EERGDLLVFLSGMAEISAVLEAAQTYASHTQRWVVLPLHSALSVADQDKVFDVAPPGVRKCILSTNIAETSVTID
  GIRFVVDSGKVKEMSYDPQAKLQRLQEFWISQASAEQRKGRAGRTGPGVCFRLYAESDYDAFAPYPVPEIRRVAL
  DSLVLQMKSMSVGDPRTFPFIEPPPPASLETAILYLRDQGALDSSEALTPIGSLLAQLPVDVVIGKMLILGSMFS
  LVEPVLTIAAALSVQSPFTRSAQSSPECAAARRPLESDQGDPFTLFNVFNAWVQVKSERSRNSRKWCRRRGIEEH
  RLYEMANLRRQFKELLEDHGLLAGAQAAQVGDSYSRLQQRRERRALHQLKRQHEEGAGRRRKVLRLQEEQDGGSS
  DEDRAGPAPPGASDGVDIQDVKFKLRHDLAQLQAAASSAQDLSREQLALLKLVLGRGLYPQLAVPDAFNSSRKDS
  DQIFHTQAKQGAVLHPTCVFAGSPEVLHAQELEASNCDGSRDDKDKMSSKHQLLSFVSLLETNKPYLVNCVRIPA
  LQSLLLFSRSLDTNGDCSRLVADGWLELQLADSESAIRLLAASLRLRARWESALDRQLAHQAQQQLEEEEEDTPV
  SPKEVATLSKELLQFTASKIPYSLRRLTGLEVQNMYVGPQTIPATPHLPGLFGSSTLSPHPTKGGYAVTDFLTYN
  CLTNDTDLYSDCLRTFWTCPHCGLHAPLTPLERIAHENTCPQAPQDGPPGAEEAALETLQKTSVLQRPYHCEACG
  KDFLFTPTEVLRHRKQHV

• Structural information:
  • Protein Domains: (172..33-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (368..53-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011709  IPR007502  IPR014001  IPR001650  IPR027417  
  • Prosite: PS51192 PS51194
  • STRING: ENSP00000331907
• Other Databases: GeneCards:  DHX34  Malacards:  DHX34

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:2000623	negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0000956	nuclear-transcribed mRNA catabolic process	IMP	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray